NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile) AND Heimler syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001578798.2
Allele description [Variation Report for NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile)]
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023